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Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring.
Paděrová J, Holubová A, Simandlová M, Puchmajerová A, Vlčková M, Malíková M, Pourová R, Vejvalková S, Havlovicová M, Šenkeříková M, Ptáková N, Drábová J, Geryk J, Maver A, Křepelová A, Macek M Jr. Paděrová J, et al. Among authors: puchmajerova a. Clin Genet. 2016 Sep;90(3):230-7. doi: 10.1111/cge.12754. Epub 2016 Mar 8. Clin Genet. 2016. PMID: 26841933
Mutations in STK11 gene in Czech Peutz-Jeghers patients.
Vasovcák P, Puchmajerová A, Roubalík J, Krepelová A. Vasovcák P, et al. Among authors: puchmajerova a. BMC Med Genet. 2009 Jul 19;10:69. doi: 10.1186/1471-2350-10-69. BMC Med Genet. 2009. PMID: 19615099 Free PMC article.
Odontogenic keratocysts in the Basal Cell Nevus (Gorlin-Goltz) Syndrome associated with paresthesia of the lower jaw: Case report, retrospective analysis of a representative Czech cohort and recommendations for the early diagnosis.
Hubacek M, Kripnerova T, Nemcikova M, Krepelová A, Puchmajerova A, Malikova M, Havlovicová M, Cadova J, Kodet R, Macek M Jr, Dostalova T. Hubacek M, et al. Among authors: puchmajerova a. Neuro Endocrinol Lett. 2016 Sep;37(4):269-276. Neuro Endocrinol Lett. 2016. PMID: 27857042
Deletions of 9q21.3 including NTRK2 are associated with severe phenotype.
Hancarova M, Puchmajerova A, Drabova J, Karaskova E, Vlckova M, Sedlacek Z. Hancarova M, et al. Among authors: puchmajerova a. Am J Med Genet A. 2015 Jan;167A(1):264-7. doi: 10.1002/ajmg.a.36797. Epub 2014 Oct 27. Am J Med Genet A. 2015. PMID: 25348648 No abstract available.
[Cowden syndrome].
Puchmajerová A, Vasovcák P, Krepelová A, Plevová P. Puchmajerová A, et al. Klin Onkol. 2009;22 Suppl:S56-7. Klin Onkol. 2009. PMID: 19764399 Review. Czech. No abstract available.
Inherited ichthyoses: molecular causes of the disease in Czech patients.
Borská R, Pinková B, Réblová K, Bučková H, Kopečková L, Němečková J, Puchmajerová A, Malíková M, Hermanová M, Fajkusová L. Borská R, et al. Among authors: puchmajerova a. Orphanet J Rare Dis. 2019 May 2;14(1):92. doi: 10.1186/s13023-019-1076-7. Orphanet J Rare Dis. 2019. PMID: 31046801 Free PMC article.
[Peutz-Jeghers syndrome].
Puchmajerová A, Vasovák P, Krepelová A. Puchmajerová A, et al. Klin Onkol. 2009;22 Suppl:S36-7. Klin Onkol. 2009. PMID: 19764394 Review. Czech. No abstract available.
34 results